Incidental Mutation 'R7233:Cfap44'
ID 562663
Institutional Source Beutler Lab
Gene Symbol Cfap44
Ensembl Gene ENSMUSG00000071550
Gene Name cilia and flagella associated protein 44
Synonyms Wdr52, 6330444M21Rik, D16Ertd642e
MMRRC Submission 045343-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7233 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 44215159-44302791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44242771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 725 (L725Q)
Ref Sequence ENSEMBL: ENSMUSP00000097331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099742] [ENSMUST00000120049]
AlphaFold E9Q5M6
Predicted Effect probably damaging
Transcript: ENSMUST00000099742
AA Change: L725Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097331
Gene: ENSMUSG00000071550
AA Change: L725Q

DomainStartEndE-ValueType
low complexity region 42 64 N/A INTRINSIC
low complexity region 76 92 N/A INTRINSIC
Blast:WD40 161 201 1e-7 BLAST
WD40 204 246 4.58e1 SMART
WD40 249 288 4.62e-1 SMART
Blast:WD40 292 337 2e-15 BLAST
WD40 342 381 4.8e-2 SMART
WD40 447 486 4.95e-4 SMART
WD40 491 532 2.64e2 SMART
WD40 552 591 2.98e-7 SMART
Blast:WD40 595 634 1e-19 BLAST
coiled coil region 669 711 N/A INTRINSIC
WD40 780 820 3.82e1 SMART
WD40 830 872 2.4e-2 SMART
coiled coil region 907 955 N/A INTRINSIC
coiled coil region 1101 1122 N/A INTRINSIC
low complexity region 1266 1295 N/A INTRINSIC
low complexity region 1312 1325 N/A INTRINSIC
coiled coil region 1402 1459 N/A INTRINSIC
low complexity region 1476 1488 N/A INTRINSIC
low complexity region 1489 1523 N/A INTRINSIC
coiled coil region 1543 1607 N/A INTRINSIC
coiled coil region 1630 1731 N/A INTRINSIC
coiled coil region 1795 1822 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120049
AA Change: L725Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113908
Gene: ENSMUSG00000071550
AA Change: L725Q

DomainStartEndE-ValueType
low complexity region 42 64 N/A INTRINSIC
low complexity region 76 92 N/A INTRINSIC
Blast:WD40 161 201 1e-7 BLAST
WD40 204 246 4.58e1 SMART
WD40 249 288 4.62e-1 SMART
Blast:WD40 292 337 2e-15 BLAST
WD40 342 381 4.8e-2 SMART
WD40 447 486 4.95e-4 SMART
WD40 491 532 2.64e2 SMART
WD40 552 591 2.98e-7 SMART
Blast:WD40 595 634 1e-19 BLAST
coiled coil region 669 711 N/A INTRINSIC
WD40 780 820 3.82e1 SMART
WD40 830 872 2.4e-2 SMART
coiled coil region 907 955 N/A INTRINSIC
coiled coil region 1101 1122 N/A INTRINSIC
low complexity region 1266 1295 N/A INTRINSIC
low complexity region 1312 1325 N/A INTRINSIC
coiled coil region 1402 1459 N/A INTRINSIC
low complexity region 1476 1488 N/A INTRINSIC
low complexity region 1489 1523 N/A INTRINSIC
coiled coil region 1543 1607 N/A INTRINSIC
coiled coil region 1630 1731 N/A INTRINSIC
coiled coil region 1795 1822 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by multiple sperm axonemal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,762,641 (GRCm39) K505R probably benign Het
Arhgap24 A G 5: 103,026,367 (GRCm39) K263E probably benign Het
Ark2n C A 18: 77,722,882 (GRCm39) V385F probably damaging Het
Armc2 A T 10: 41,799,800 (GRCm39) V686D probably damaging Het
Bhmt T A 13: 93,758,025 (GRCm39) K229* probably null Het
Birc2 A T 9: 7,827,009 (GRCm39) C326S probably damaging Het
Blzf1 A T 1: 164,123,512 (GRCm39) probably null Het
Camsap3 T A 8: 3,650,371 (GRCm39) F223Y probably damaging Het
Ccdc126 C T 6: 49,316,775 (GRCm39) T85M probably damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ces2h T A 8: 105,744,088 (GRCm39) C279S probably damaging Het
Cibar2 A G 8: 120,898,661 (GRCm39) L131P probably damaging Het
Clip1 T C 5: 123,749,922 (GRCm39) E987G probably damaging Het
Cog1 G T 11: 113,540,556 (GRCm39) R57L probably damaging Het
Ctdspl T C 9: 118,849,114 (GRCm39) probably null Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dnttip2 T C 3: 122,070,039 (GRCm39) V418A probably benign Het
Dop1a G A 9: 86,403,749 (GRCm39) A186T probably benign Het
Efcab3 T C 11: 104,730,669 (GRCm39) S1966P possibly damaging Het
Engase T A 11: 118,373,827 (GRCm39) V323E probably damaging Het
Farsb A G 1: 78,447,718 (GRCm39) probably null Het
Fpr2 G T 17: 18,113,766 (GRCm39) W254L probably damaging Het
Frmd3 A C 4: 73,932,023 (GRCm39) H6P probably benign Het
Fscn1 C T 5: 142,956,029 (GRCm39) S366L possibly damaging Het
Galt T A 4: 41,758,267 (GRCm39) I344N probably benign Het
Gfra4 A T 2: 130,883,037 (GRCm39) V194E probably damaging Het
Golgb1 T C 16: 36,735,120 (GRCm39) S1497P possibly damaging Het
Igfn1 A C 1: 135,897,873 (GRCm39) S898A probably benign Het
Igkv1-135 T C 6: 67,587,332 (GRCm39) S68P probably benign Het
Lama2 A T 10: 27,107,659 (GRCm39) C784S probably damaging Het
Lars2 G T 9: 123,241,019 (GRCm39) G229* probably null Het
Lats2 A T 14: 57,960,151 (GRCm39) probably null Het
Lgr6 A C 1: 134,928,214 (GRCm39) probably null Het
Lrp1 A T 10: 127,430,930 (GRCm39) I373N probably damaging Het
Maml2 A T 9: 13,532,067 (GRCm39) H427L Het
Mansc1 A G 6: 134,598,806 (GRCm39) V37A probably damaging Het
Map4k3 A G 17: 80,905,077 (GRCm39) V738A possibly damaging Het
Mastl A G 2: 23,023,670 (GRCm39) I351T probably benign Het
Mcmdc2 T G 1: 10,002,408 (GRCm39) probably null Het
Mrgprd A G 7: 144,875,672 (GRCm39) D181G possibly damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Msra T C 14: 64,360,714 (GRCm39) Y209C probably damaging Het
Musk A G 4: 58,373,307 (GRCm39) E759G possibly damaging Het
Nab1 T C 1: 52,498,378 (GRCm39) *487W probably null Het
Or2z9 A G 8: 72,853,900 (GRCm39) T99A probably benign Het
Or5p66 T A 7: 107,885,923 (GRCm39) T137S probably benign Het
Pkdrej A G 15: 85,705,349 (GRCm39) S196P probably damaging Het
Pln A G 10: 53,220,008 (GRCm39) T17A probably damaging Het
Polrmt A T 10: 79,581,619 (GRCm39) probably null Het
Ppp1r14a T A 7: 28,988,949 (GRCm39) Y64N probably damaging Het
Ppp1r9a A T 6: 5,134,804 (GRCm39) H959L probably benign Het
Pramel42 A T 5: 94,685,524 (GRCm39) M395L probably benign Het
Prmt7 A G 8: 106,946,642 (GRCm39) T75A probably damaging Het
Prom1 T C 5: 44,194,816 (GRCm39) S319G possibly damaging Het
Prtg G A 9: 72,819,273 (GRCm39) G1089S probably benign Het
Ptprd T C 4: 75,978,020 (GRCm39) D596G probably benign Het
Rbm12 C T 2: 155,937,894 (GRCm39) G793S unknown Het
Rora A T 9: 69,104,804 (GRCm39) R43* probably null Het
Sez6 T C 11: 77,863,963 (GRCm39) Y482H probably damaging Het
Skint2 A T 4: 112,483,122 (GRCm39) N176Y probably damaging Het
Slc44a2 G T 9: 21,259,445 (GRCm39) probably null Het
Sox6 A G 7: 115,089,044 (GRCm39) V606A possibly damaging Het
Spa17 T C 9: 37,514,587 (GRCm39) probably null Het
Syne1 A C 10: 5,252,160 (GRCm39) L2498R probably damaging Het
Synpo2 T G 3: 122,911,333 (GRCm39) H104P probably benign Het
Tapbp G T 17: 34,138,943 (GRCm39) A46S probably damaging Het
Tbc1d30 C A 10: 121,107,962 (GRCm39) R480L probably benign Het
Tshz1 T C 18: 84,032,944 (GRCm39) D488G possibly damaging Het
Ulk1 A G 5: 110,956,908 (GRCm39) L70P probably damaging Het
Zcchc17 T A 4: 130,221,116 (GRCm39) D145V probably damaging Het
Zfp318 T A 17: 46,716,978 (GRCm39) L1037M probably damaging Het
Zfp324 C T 7: 12,704,524 (GRCm39) Q238* probably null Het
Zfp874a A G 13: 67,590,776 (GRCm39) Y303H possibly damaging Het
Zfp975 T C 7: 42,311,918 (GRCm39) K232E probably benign Het
Zfp982 T A 4: 147,597,718 (GRCm39) N358K probably benign Het
Zmiz1 C T 14: 25,650,092 (GRCm39) P417S possibly damaging Het
Other mutations in Cfap44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Cfap44 APN 16 44,227,767 (GRCm39) missense probably damaging 0.99
IGL00952:Cfap44 APN 16 44,241,638 (GRCm39) missense probably benign 0.33
IGL01340:Cfap44 APN 16 44,224,493 (GRCm39) missense probably damaging 1.00
IGL01530:Cfap44 APN 16 44,269,530 (GRCm39) missense probably damaging 1.00
IGL02083:Cfap44 APN 16 44,257,525 (GRCm39) missense probably damaging 1.00
IGL02088:Cfap44 APN 16 44,271,991 (GRCm39) missense possibly damaging 0.59
IGL02142:Cfap44 APN 16 44,241,507 (GRCm39) missense probably benign 0.15
IGL02311:Cfap44 APN 16 44,225,134 (GRCm39) splice site probably benign
IGL02574:Cfap44 APN 16 44,301,746 (GRCm39) missense probably damaging 1.00
IGL02893:Cfap44 APN 16 44,237,180 (GRCm39) missense probably damaging 1.00
IGL02959:Cfap44 APN 16 44,291,230 (GRCm39) splice site probably benign
IGL03291:Cfap44 APN 16 44,227,674 (GRCm39) missense possibly damaging 0.86
feldgrau UTSW 16 44,254,029 (GRCm39) nonsense probably null
I2288:Cfap44 UTSW 16 44,269,501 (GRCm39) nonsense probably null
R0023:Cfap44 UTSW 16 44,241,583 (GRCm39) missense probably benign 0.01
R0023:Cfap44 UTSW 16 44,241,583 (GRCm39) missense probably benign 0.01
R0036:Cfap44 UTSW 16 44,259,432 (GRCm39) missense possibly damaging 0.83
R0139:Cfap44 UTSW 16 44,253,785 (GRCm39) missense possibly damaging 0.90
R0145:Cfap44 UTSW 16 44,288,735 (GRCm39) missense probably damaging 1.00
R0193:Cfap44 UTSW 16 44,269,573 (GRCm39) splice site probably null
R0238:Cfap44 UTSW 16 44,242,681 (GRCm39) missense probably benign
R0238:Cfap44 UTSW 16 44,242,681 (GRCm39) missense probably benign
R0288:Cfap44 UTSW 16 44,236,257 (GRCm39) splice site probably benign
R0367:Cfap44 UTSW 16 44,253,839 (GRCm39) critical splice donor site probably null
R0452:Cfap44 UTSW 16 44,252,308 (GRCm39) missense probably benign 0.01
R0531:Cfap44 UTSW 16 44,221,789 (GRCm39) start codon destroyed probably benign 0.01
R0722:Cfap44 UTSW 16 44,225,039 (GRCm39) missense possibly damaging 0.94
R0801:Cfap44 UTSW 16 44,242,849 (GRCm39) missense probably benign 0.41
R1209:Cfap44 UTSW 16 44,242,780 (GRCm39) missense possibly damaging 0.86
R1215:Cfap44 UTSW 16 44,239,666 (GRCm39) missense probably damaging 1.00
R1385:Cfap44 UTSW 16 44,291,138 (GRCm39) missense probably damaging 1.00
R1400:Cfap44 UTSW 16 44,241,575 (GRCm39) missense probably benign 0.01
R1415:Cfap44 UTSW 16 44,301,752 (GRCm39) missense probably damaging 0.99
R1475:Cfap44 UTSW 16 44,254,175 (GRCm39) splice site probably benign
R1901:Cfap44 UTSW 16 44,242,737 (GRCm39) missense probably benign 0.00
R1902:Cfap44 UTSW 16 44,242,737 (GRCm39) missense probably benign 0.00
R1903:Cfap44 UTSW 16 44,242,737 (GRCm39) missense probably benign 0.00
R2023:Cfap44 UTSW 16 44,236,375 (GRCm39) missense probably benign 0.01
R2126:Cfap44 UTSW 16 44,230,838 (GRCm39) missense probably benign 0.40
R2147:Cfap44 UTSW 16 44,272,047 (GRCm39) missense probably benign 0.31
R2233:Cfap44 UTSW 16 44,271,888 (GRCm39) missense probably benign 0.01
R2439:Cfap44 UTSW 16 44,301,609 (GRCm39) unclassified probably benign
R3015:Cfap44 UTSW 16 44,230,832 (GRCm39) missense probably benign 0.40
R4178:Cfap44 UTSW 16 44,272,216 (GRCm39) missense possibly damaging 0.81
R4421:Cfap44 UTSW 16 44,242,800 (GRCm39) missense probably damaging 1.00
R4516:Cfap44 UTSW 16 44,294,227 (GRCm39) nonsense probably null
R4742:Cfap44 UTSW 16 44,269,615 (GRCm39) splice site probably null
R4766:Cfap44 UTSW 16 44,236,246 (GRCm39) splice site probably null
R4810:Cfap44 UTSW 16 44,271,898 (GRCm39) missense probably damaging 0.99
R4955:Cfap44 UTSW 16 44,295,640 (GRCm39) missense possibly damaging 0.75
R5058:Cfap44 UTSW 16 44,240,567 (GRCm39) splice site probably null
R5164:Cfap44 UTSW 16 44,301,752 (GRCm39) missense probably damaging 0.99
R5172:Cfap44 UTSW 16 44,269,556 (GRCm39) missense probably benign
R5344:Cfap44 UTSW 16 44,236,763 (GRCm39) critical splice donor site probably null
R5519:Cfap44 UTSW 16 44,224,451 (GRCm39) missense probably damaging 1.00
R5572:Cfap44 UTSW 16 44,301,668 (GRCm39) missense possibly damaging 0.95
R5601:Cfap44 UTSW 16 44,280,549 (GRCm39) missense probably damaging 1.00
R5625:Cfap44 UTSW 16 44,280,710 (GRCm39) splice site probably null
R5638:Cfap44 UTSW 16 44,275,894 (GRCm39) missense possibly damaging 0.94
R5727:Cfap44 UTSW 16 44,255,805 (GRCm39) missense probably damaging 0.98
R5950:Cfap44 UTSW 16 44,300,210 (GRCm39) missense probably damaging 0.99
R6057:Cfap44 UTSW 16 44,269,460 (GRCm39) missense probably benign 0.03
R6063:Cfap44 UTSW 16 44,250,255 (GRCm39) missense probably benign 0.00
R6221:Cfap44 UTSW 16 44,257,549 (GRCm39) missense probably benign 0.13
R6277:Cfap44 UTSW 16 44,257,669 (GRCm39) missense probably benign 0.04
R6322:Cfap44 UTSW 16 44,254,029 (GRCm39) nonsense probably null
R6836:Cfap44 UTSW 16 44,224,442 (GRCm39) missense probably damaging 0.99
R6854:Cfap44 UTSW 16 44,269,391 (GRCm39) critical splice acceptor site probably null
R6889:Cfap44 UTSW 16 44,224,495 (GRCm39) missense probably benign 0.03
R7294:Cfap44 UTSW 16 44,225,256 (GRCm39) intron probably benign
R7298:Cfap44 UTSW 16 44,301,775 (GRCm39) missense probably benign 0.04
R7332:Cfap44 UTSW 16 44,250,191 (GRCm39) missense probably damaging 1.00
R7410:Cfap44 UTSW 16 44,288,776 (GRCm39) missense probably damaging 1.00
R7455:Cfap44 UTSW 16 44,225,147 (GRCm39) intron probably benign
R7456:Cfap44 UTSW 16 44,252,305 (GRCm39) missense probably benign 0.07
R7491:Cfap44 UTSW 16 44,291,111 (GRCm39) missense probably damaging 1.00
R7587:Cfap44 UTSW 16 44,224,469 (GRCm39) missense probably benign 0.02
R7698:Cfap44 UTSW 16 44,254,149 (GRCm39) missense probably damaging 0.99
R7717:Cfap44 UTSW 16 44,250,298 (GRCm39) missense probably damaging 0.97
R7953:Cfap44 UTSW 16 44,234,054 (GRCm39) missense probably benign 0.00
R7994:Cfap44 UTSW 16 44,252,501 (GRCm39) missense probably damaging 0.97
R8043:Cfap44 UTSW 16 44,234,054 (GRCm39) missense probably benign 0.00
R8238:Cfap44 UTSW 16 44,235,668 (GRCm39) splice site probably null
R8338:Cfap44 UTSW 16 44,239,698 (GRCm39) critical splice donor site probably null
R8678:Cfap44 UTSW 16 44,295,636 (GRCm39) missense probably damaging 1.00
R8680:Cfap44 UTSW 16 44,225,085 (GRCm39) missense probably damaging 0.98
R8785:Cfap44 UTSW 16 44,275,895 (GRCm39) missense probably damaging 0.99
R8922:Cfap44 UTSW 16 44,272,030 (GRCm39) missense probably benign 0.23
R9005:Cfap44 UTSW 16 44,280,517 (GRCm39) missense probably damaging 1.00
R9020:Cfap44 UTSW 16 44,257,522 (GRCm39) missense probably damaging 0.99
R9110:Cfap44 UTSW 16 44,255,923 (GRCm39) missense probably damaging 0.98
R9111:Cfap44 UTSW 16 44,252,326 (GRCm39) missense probably benign 0.00
R9126:Cfap44 UTSW 16 44,295,619 (GRCm39) missense possibly damaging 0.77
R9187:Cfap44 UTSW 16 44,225,144 (GRCm39) intron probably benign
R9194:Cfap44 UTSW 16 44,288,824 (GRCm39) missense probably damaging 1.00
R9251:Cfap44 UTSW 16 44,229,276 (GRCm39) missense probably damaging 0.99
R9334:Cfap44 UTSW 16 44,239,654 (GRCm39) missense probably damaging 0.98
R9336:Cfap44 UTSW 16 44,242,807 (GRCm39) missense probably damaging 0.97
V1662:Cfap44 UTSW 16 44,269,501 (GRCm39) nonsense probably null
X0060:Cfap44 UTSW 16 44,269,437 (GRCm39) missense possibly damaging 0.83
Z1088:Cfap44 UTSW 16 44,221,829 (GRCm39) missense probably damaging 0.98
Z1177:Cfap44 UTSW 16 44,252,407 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACAATCTTTGTCATGCTCACACAC -3'
(R):5'- GAGTTAGGCCTTGAATGACAACAG -3'

Sequencing Primer
(F):5'- TTTGTCATGCTCACACACAAAATAAC -3'
(R):5'- GCCTTGAATGACAACAGATACAAAAG -3'
Posted On 2019-06-26